v2024-04-02

Overview:

• Number of new terms: 125
• Number of changed labels: 12
• Number of changed definitions: 17
• Number obsoleted terms: 23
• Number of new obsoletion candidates: 16
• Number of terms who were previously candidate for obsoletion and are now not anymore: 3

New terms

Mondo ID	Label	Definition
MONDO:0100551	SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss	A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.
MONDO:0100552	ATTRV30M amyloidosis	A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
MONDO:0100553	OPTN-related open angle glaucoma	Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.
MONDO:0100554	hereditary narcolepsy	An instance of narcolepsy that is caused by an inherited genomic modification in an individual.
MONDO:0100555	IgA nephropathy, susceptibility to	An inherited susceptibility or predisposition to developing IgA glomerulonephritis.
MONDO:0700245	epidermolytic hyperkeratosis 2B, autosomal recessive
MONDO:0700248	epidermolytic hyperkeratosis 2A, autosomal dominant
MONDO:0700249	epidermolytic hyperkeratosis 1
MONDO:0700250	mitochondrial complex IV deficiency, nuclear type 1
MONDO:0700251	orofacial cleft 7
MONDO:0700252	parneoplastic endocrine syndrome	Paraneoplastic syndrome that involves the endocrine system.
MONDO:0700253	paraneoplastic hematological syndrome	Paraneoplastic syndrome that involves the hematopoietic system.
MONDO:0700254	paraneoplastic gastrointestinal syndrome	Paraneoplastic syndrome that involves the digestive system.
MONDO:0700255	paraneoplastic renal syndrome	Paraneoplastic syndrome that involves the renal system.
MONDO:0700256	TREX1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
MONDO:0700257	RNASEH2B-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700258	RNASEH2C-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700259	RNASEH2A-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700260	SAMHD1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
MONDO:0700261	ADAR-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.
MONDO:0700262	IFIH1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.
MONDO:0700263	RNU7-1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700264	type 1 interferonopathy	Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.
MONDO:0700265	paraneoplastic rheumatic syndrome	Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.
MONDO:0700266	paraneoplastic cutaneous syndrome	Paraneoplastic syndrome that involves the integumental system.
MONDO:0956962	benign teratoma	A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.
MONDO:0956964	medulloblastoma SHH activated and TP53 mutant	A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
MONDO:0956965	medulloblastoma SHH activated and TP53 wild-type	A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
MONDO:0956966	medulloblastoma non-WNT/non-SHH group 3	A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
MONDO:0956967	medulloblastoma non-WNT/non-SHH group 4	A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.
MONDO:0956969	chronic inducible urticaria	A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
MONDO:0956971	intermittent asthma	A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
MONDO:0956975	T2-high asthma	A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
MONDO:0956976	T2-low asthma	A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
MONDO:0956977	near-fatal asthma	An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
MONDO:0956979	nocturnal asthma	A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
MONDO:0956980	vascular parkinsonism	A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
MONDO:0956981	astrocytoma, IDH-mutant, grade 4	An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
MONDO:0956983	pleomorphic xanthoastrocytoma BRAF mutant	An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.
MONDO:0956984	YAP1-MAMLD1 fusion-positive supratentorial ependymoma	A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.
MONDO:0956985	lipofibromatosis-like neural tumor	A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.
MONDO:0956986	solitary fibrous tumor/hemangiopericytoma	A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
MONDO:0956987	EZB-MYC+ diffuse large B-cell lymphoma	An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
MONDO:0956988	EZB-MYC- diffuse large B-cell lymphoma	An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.
MONDO:0956989	CIC-rearranged sarcoma	An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
MONDO:0956990	supratentorial ependymoma, ZFTA fusion–positive	A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
MONDO:0956991	supratentorial ependymoma, YAP1 fusion–positive	A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
MONDO:0956992	posterior fossa group A ependymoma	A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
MONDO:0956993	posterior fossa group B ependymoma	A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
MONDO:0956994	astrocytoma, IDH-mutant, grade 2	An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
MONDO:0956995	astrocytoma, IDH-mutant, grade 3	An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
MONDO:0956996	oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2	An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).
MONDO:0956997	oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3	An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.
MONDO:0957196	diffuse midline glioma, H3 K27M-mutant	A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
MONDO:0957197	diffuse glioma, H3 G34 mutant	A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.
MONDO:0957519	diffuse gastric cancer	A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.
MONDO:0957524	COX deficiency, benign infantile mitochondrial myopathy	A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.
MONDO:0957896	metabolic dysfunction and alcohol associated liver disease	A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.
MONDO:0957912	organophosphate-induced delayed polyneuropathy	An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.
MONDO:0958071	Hao-Fountain syndrome due to USP7 mutation
MONDO:0958075	intramedullary non-dysraphic spinal cord lipoma	A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura.
MONDO:0958076	myeloschisis	A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.
MONDO:0958077	collagen 6-related congenital muscular dystrophy
MONDO:0958085	digenic hemochromatosis	A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.
MONDO:0958093	non-syndromic supernumerary kidneys
MONDO:0958095	Nodal T-follicular helper cell lymphoma, follicular type
MONDO:0958096	monomorphic epitheliotropic intestinal T-cell lymphoma
MONDO:0958097	primary superior vena cava aneurysm
MONDO:0958098	primary inferior vena cava aneurysm
MONDO:0958099	idiopathic subglottic stenosis
MONDO:0958101	lymphocytic mastitis
MONDO:0958104	digenic Alport syndrome
MONDO:0958122	idiopathic small fibers neuropathy
MONDO:0958123	isolated pulmonary artery sling
MONDO:0958128	non-transplant-related bronchiolitis obliterans
MONDO:0958129	COQ7-related distal hereditary motor neuropathy
MONDO:0958130	Greig cephalopolysyndactyly-contiguous gene syndrome
MONDO:0958137	early-onset autoimmune disorder due to DOCK11 partial deficiency
MONDO:0958138	early-onset immune dysregulation due to DOCK11 complete deficiency
MONDO:0958150	Borrelia miyamotoi disease
MONDO:0958151	cepacia syndrome
MONDO:0958159	sarcoma with BCOR genetic alterations	A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
MONDO:0958160	round cell sarcoma with EWSR1-non-ETS fusion	A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
MONDO:0958161	B acute lymphoblastic leukemia with PAX5 P80R mutation	A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
MONDO:0958162	B acute lymphoblastic leukemia with DUX4 rearrangement	A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
MONDO:0958164	poorly differentiated chordoma	A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
MONDO:0958165	anaplastic sarcoma of the kidney	A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
MONDO:0958224	encephalopathy, porphyria-related
MONDO:0958226	leukoencephalopathy, porphyria-related
MONDO:0958227	polydactyly-macrocephaly syndrome
MONDO:0958228	hearing loss, autosomal recessive 122
MONDO:0958229	bleeding disorder, vascular-type
MONDO:0958230	orofaciodigital syndrome 20
MONDO:0958231	neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
MONDO:0958232	hearing loss, autosomal dominant 90
MONDO:0958233	Bethlem myopathy 1B
MONDO:0958234	Bethlem myopathy 1C
MONDO:0958235	Ullrich congenital muscular dystrophy 1B
MONDO:0958236	Ullrich congenital muscular dystrophy 1C
MONDO:0958237	isolated hyperferritinemia
MONDO:0958238	hyperemesis gravidarum, susceptibility to
MONDO:0958239	microphthalmia/coloboma 11
MONDO:0958240	neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
MONDO:0958241	cardiomyopathy, familial hypertrophic, 30, atrial
MONDO:0958242	spermatogenic failure 90
MONDO:0958256	pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
MONDO:0958257	psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
MONDO:0958258	Cushing syndrome due to cortisol-producing adrenocortical adenoma
MONDO:0958259	dysraphism with stalk	A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.
MONDO:0958260	dysraphic spinal cord lipoma	A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.
MONDO:0958262	isolated primary pigmented nodular adrenocortical disease
MONDO:0958263	isolated micronodular adrenocortical disease
MONDO:0958264	infectious scleritis
MONDO:0958265	idiopathic scleritis
MONDO:0958266	immune-mediated scleritis
MONDO:0958267	non-syndromic bridging bronchus
MONDO:0958268	non-syndromic congenital bronchial atresia
MONDO:0958269	isolated left bronchial isomerism
MONDO:0958270	central precocious puberty in male
MONDO:0958273	cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
MONDO:0958274	benign atrophic papulosis
MONDO:0958275	segmental spinal dysgenesis
MONDO:0958277	hearing loss, autosomal recessive 123
MONDO:0958278	neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
MONDO:0958279	megalencephaly-polydactyly syndrome

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0005419	methamphetamine dependence	metamphetamine dependence	methamphetamine dependence
MONDO:0007525	Ehlers-Danlos syndrome, arthrochalasia type	Ehlers-Danlos syndrome, arthrochalasis type	Ehlers-Danlos syndrome, arthrochalasia type
MONDO:0009681	Ullrich congenital muscular dystrophy 1A	Ullrich congenital muscular dystrophy 1	Ullrich congenital muscular dystrophy 1A
MONDO:0012206	spondyloepiphyseal dysplasia with metatarsal shortening	Czech dysplasia, metatarsal type	spondyloepiphyseal dysplasia with metatarsal shortening
MONDO:0012297	spastic paraplegia, optic atropy, and neuropathy	SPOAN syndrome	spastic paraplegia, optic atropy, and neuropathy
MONDO:0014091	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	mitochondrial complex V (ATP synthase) deficiency nuclear type 4	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
MONDO:0014602	Hogue-Janssens syndrome 1	intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	Hogue-Janssens syndrome 1
MONDO:0014605	Houge-Janssens syndrome 2	microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	Houge-Janssens syndrome 2
MONDO:0024530	Bethlem myopathy 1A	Bethlem myopathy 1	Bethlem myopathy 1A
MONDO:0032697	Houge-Janssens syndrome 3	neurodevelopmental disorder and language delay with or without structural brain abnormalities	Houge-Janssens syndrome 3
MONDO:0859160	mitochondrial complex IV deficiency, nuclear type 22	Mitochondrial complex IV deficiency, nuclear type 22	mitochondrial complex IV deficiency, nuclear type 22
MONDO:0859520	mitochondrial complex IV deficiency, nuclear type 23	Mitochondrial complex IV deficiency, nuclear type 23	mitochondrial complex IV deficiency, nuclear type 23

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0037251	congestive splenomegaly		A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.
MONDO:0005419	methamphetamine dependence	A drug dependence that is a psychological dependency on the regular use of metamphetamine.	A drug dependence that is a psychological dependency on the regular use of methamphetamine.
MONDO:0007100	familial amyloid neuropathy	Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.	A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
MONDO:0016158	narcolepsy-cataplexy syndrome	Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).	A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).
MONDO:0008163	otofaciocervical syndrome	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
MONDO:0957408	type 1 interferonopathy of childhood		A type 1 interferonopathy that occurs during childhood.
MONDO:0008562	thumb deformity-alopecia-pigmentation anomaly syndrome	Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
MONDO:0012206	spondyloepiphyseal dysplasia with metatarsal shortening	Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterized by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.	A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
MONDO:0013038	CLOVES syndrome	A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.	A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.
MONDO:0014602	Hogue-Janssens syndrome 1	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.	An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
MONDO:0014805	Hao-Fountain syndrome	A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.	A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).
MONDO:0014855	intellectual disability, autosomal dominant 42	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.	Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.
MONDO:0015248	ataxia-photosensitivity-short stature syndrome	Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
MONDO:0019371	narcolepsy without cataplexy	Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.	A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.
MONDO:0016819	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.	This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.
MONDO:0019441	ATTRV122I amyloidosis	Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.	A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.
MONDO:0020007	absence of the pulmonary artery	Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.	A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.

Obsolete terms

Mondo ID	Label
MONDO:0000535	obsolete tonsil squamous cell carcinoma
MONDO:0000642	obsolete brain meningioma
MONDO:0002016	obsolete benign familial neonatal epilepsy
MONDO:0002335	obsolete chronic inflammatory demyelinating polyneuritis
MONDO:0002799	obsolete nodular medulloblastoma
MONDO:0003530	obsolete aggressive digital papillary adenocarcinoma
MONDO:0003540	obsolete acute T cell leukemia
MONDO:0006361	obsolete penile fibromatosis
MONDO:0009941	obsolete Pygmy
MONDO:0015872	obsolete giant adenofibroma of the breast
MONDO:0019206	obsolete sparse hair-short stature-skin anomalies syndrome
MONDO:0021969	obsolete Banti syndrome
MONDO:0022414	obsolete allain-babin-demarquez syndrome
MONDO:0022425	obsolete alpha-thalassemia-abnormal morphogenesis
MONDO:0022913	obsolete cutler bass Romshe syndrome
MONDO:0023129	obsolete Fara Chlupackova syndrome
MONDO:0023140	obsolete fenton Wilkinson Toselano syndrome
MONDO:0023820	obsolete Moebius axonal neuropathy hypogonadism
MONDO:0042902	obsolete Say-Carpenter syndrome
MONDO:0042924	obsolete Vagneur-Triolle-Ripert syndrome
MONDO:0043187	obsolete pulmonary artery agenesis
MONDO:0044876	obsolete drug hypersensitivity syndrome
MONDO:0800199	obsolete Angelman syndrome chromosome region

New obsoletion candidates

Mondo ID	Label
MONDO:0000093	Schistosoma mansoni infection, susceptibility
MONDO:0000417	early onset absence epilepsy
MONDO:0000424	inborn vitamin B12 deficiency
MONDO:0002839	leather-bottle stomach
MONDO:0009453	immune deficiency disease
MONDO:0005562	age-related hearing impairment
MONDO:0031520	familial severe combined immunodeficiency
MONDO:0007736	HPA 1 Recognition polymorphism, beta-globin-related
MONDO:0009068	cytochrome-c oxidase deficiency disease
MONDO:0018814	non-SCID combined immunodeficiency
MONDO:0010595	Sertoli cell-only syndrome
MONDO:0044201	T+ B+ severe combined immunodeficiency
MONDO:0018774	erythrokeratodermia-cardiomyopathy syndrome
MONDO:0022900	athyreotic congenital hypothyroidism
MONDO:0100032	familial temporal lobe epilepsy syndrome
MONDO:0958201	myoclonic epilepsy of Lafora 2

Terms that were previously candidate for obsoletion and are now not anymore

Mondo ID	Label
MONDO:0003954	angiokeratoma of Fordyce
MONDO:0020702	autosomal dominant epidermolytic ichthyosis
MONDO:0023232	giant cell myocarditis